New Tests for Evaluating Effects of Treatments for Rare, Fatal Disease

Niemann-Pick disease type C1 is a rare, inherited disease characterized by progressive impairment of motor and intellectual functions in early childhood. The disease makes it impossible for the body to properly transport cholesterol and other fats (lipids) within cells, causing these compounds to build up in the liver, brain, and spleen and to affect the organs’ functioning. A child who shows signs of this disease before age 1 may not live to school age. School-age children who show symptoms may live into their mid-to-late teens. A few live into their 20s. No drugs approved by the U.S. Food and Drug Administration are available to reverse or prevent the disease, although a drug called miglustat is approved in other countries and may help to stabilize the disease’s effects.